ClinVar

NM_022041.4(GAN):c.322G>A (p.Ala108Thr)

Gene:

GAN:gigaxonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

• Chr16: 81354444 (on Assembly GRCh38)
• Chr16: 81388049 (on Assembly GRCh37)

Preferred name:

NM_022041.4(GAN):c.322G>A (p.Ala108Thr)

HGVS:

• NC_000016.10:g.81354444G>A
• NG_009007.1:g.44479G>A
• NM_001377486.1:c.-318G>A
• NM_022041.4:c.322G>AMANE SELECT
• NP_071324.1:p.Ala108Thr
• LRG_242:g.44479G>A
• NC_000016.9:g.81388049G>A

This HGVS expression did not pass validation

Protein change:

A108T

Links:

dbSNP: rs771660619

NCBI 1000 Genomes Browser:

rs771660619

Molecular consequence:

• NM_001377486.1:c.-318G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_022041.4:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]